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Atp2b2m1Btlr
Chemically induced Allele Detail
Summary
Symbol: Atp2b2m1Btlr
Name: ATPase, Ca++ transporting, plasma membrane 2; mutation 1, Bruce Beutler
MGI ID: MGI:5640789
Synonyms: lohan
Gene: Atp2b2  Location: Chr6:113720803-114019574 bp, - strand  Genetic Position: Chr6, 52.85 cM
Alliance: Atp2b2m1Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThe mutation is a T to C transition at base pair 113,760,650 (v38) on chromosome 6, or base pair 281,964 in the GenBank genomic region NC_000072. The mutation corresponds to residue 3,402 in the mRNA sequence NM_009723 (variant 1) within exon 18 of 22 total exons and residue 3,213 in the mRNA sequence NM_001036684 (variant 2) within exon 16 of 20 total exons, and residue 3,520 in the cDNA transcript ENSMUST00000101044 (variant 3) within exon 20 of 24 total exons. The mutation results in a leucine (L) to proline (P) substitution at position 925 (L925P) in isoform 1 and 2 and L970P in isoform 3 of the encoded isoforms. (J:221473)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Atp2b2 Mutation:  66 strains or lines available
References
Original:  J:221473 SoRelle J, et al., Mutagenetix entry for lohan. MGI Direct Data Submission. 2015;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/09/2024
MGI 6.23
The Jackson Laboratory